Overview
MORM syndrome is a very rare inherited condition that affects multiple parts of the body. The name MORM stands for its four main features: Mental retardation (now called intellectual disability), Obesity, Retinal dystrophy (a problem with the light-sensing layer at the back of the eye), and Micropenis (a smaller-than-typical penis in males). It is sometimes called 'MORM syndrome' or referred to by its Orphanet code 75858. The condition is caused by changes (mutations) in a gene called INPP5E, which plays an important role in how cells communicate and develop. People with MORM syndrome are usually identified in childhood because of developmental delays, vision problems, and weight gain that begins early in life. The intellectual disability can range from mild to moderate, meaning some individuals can learn many skills with the right support. The retinal dystrophy causes progressive vision loss that may eventually lead to significant sight impairment. Obesity tends to develop in early childhood and can be difficult to manage. There is currently no cure for MORM syndrome. Treatment focuses on managing each symptom separately. This includes educational support and therapies for intellectual disability, regular eye monitoring and low-vision aids for retinal problems, and diet and lifestyle programs to help manage weight. A team of different specialists is usually needed to provide the best care.
Key symptoms:
Intellectual disability (difficulty with learning, reasoning, and daily tasks)Obesity starting in early childhoodProgressive vision loss due to retinal dystrophyMicropenis in males (smaller than typical penis size)Delayed developmental milestones (sitting, walking, talking later than expected)Difficulty with speech and languagePoor coordination or balanceSensitivity to light (photophobia) related to eye problemsReduced vision in dim light (night blindness)
Clinical phenotype terms (18)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for MORM syndrome.
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Specialists
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to MORM syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What genetic tests should we do to confirm the diagnosis, and should other family members be tested?,How quickly is the vision loss likely to progress, and what can we do to protect my child's remaining vision?,What therapies and educational supports do you recommend starting right away?,Should we see a pediatric endocrinologist about hormone treatment, and what are the risks and benefits?,Are there any clinical trials or research studies we could participate in?,What specialists should be part of our care team, and how often should we see each one?,What resources or support groups are available for families dealing with MORM syndrome or similar conditions?
Common questions about MORM syndrome
What is MORM syndrome?
MORM syndrome is a very rare inherited condition that affects multiple parts of the body. The name MORM stands for its four main features: Mental retardation (now called intellectual disability), Obesity, Retinal dystrophy (a problem with the light-sensing layer at the back of the eye), and Micropenis (a smaller-than-typical penis in males). It is sometimes called 'MORM syndrome' or referred to by its Orphanet code 75858. The condition is caused by changes (mutations) in a gene called INPP5E, which plays an important role in how cells communicate and develop. People with MORM syndrome are usu
How is MORM syndrome inherited?
MORM syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does MORM syndrome typically begin?
Typical onset of MORM syndrome is childhood. Age of onset can vary across affected individuals.